Gene Ontology annotation through association of InterPro records with GO terms

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

Gene Ontology annotation based on curation of immunofluorescence data

Electronic Gene Ontology annotations created by ARBA machine learning models

Triad proteins and intracellular Ca2+ transients during development of human skeletal muscle cells in aneural and innervated cultures.

Direct interaction of the Rab3 effector RIM with Ca2+ channels, SNAP-25, and synaptotagmin.

Skeletal and cardiac ryanodine receptors bind to the Ca(2+)-sensor region of dihydropyridine receptor alpha(1C) subunit.

A novel long N-terminal isoform of human L-type Ca2+ channel is up-regulated by protein kinase C.

Effects of methylmercury on human neuronal L-type calcium channels transiently expressed in human embryonic kidney cells (HEK-293).

alpha(1C) (Ca(V)1.2) L-type calcium channel mediates mechanosensitive calcium regulation.

Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit.

[A FORM OF TACHYCARDIA CAUSED BY DIGITALIS (PAROXYSMAL AURICULAR TACHYCARDIA WITH BLOCK)].

Ca2+-binding protein-1 facilitates and forms a postsynaptic complex with Cav1.2 (L-type) Ca2+ channels.

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.

Insights into voltage-gated calcium channel regulation from the structure of the CaV1.2 IQ domain-Ca2+/calmodulin complex.

Atherosclerosis-related molecular alteration of the human CaV1.2 calcium channel alpha1C subunit.

Molecular coupling of a Ca2+-activated K+ channel to L-type Ca2+ channels via alpha-actinin2.

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.

Calmodulin-dependent gating of Ca(v)1.2 calcium channels in the absence of Ca(v)beta subunits.

New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes.

Multiple C-terminal tail Ca(2+)/CaMs regulate Ca(V)1.2 function but do not mediate channel dimerization.

Protein interactome reveals converging molecular pathways among autism disorders.

Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.

Novel Timothy syndrome mutation leading to increase in CACNA1C window current.

Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.

Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young.

The α2δ-1 subunit remodels CaV1.2 voltage sensors and allows Ca2+ influx at physiological membrane potentials.

Ser1928 phosphorylation by PKA stimulates the L-type Ca2+ channel CaV1.2 and vasoconstriction during acute hyperglycemia and diabetes.

Structural insights into binding of STAC proteins to voltage-gated calcium channels.

Alternative Splicing at N Terminus and Domain I Modulates Ca(V)1.2 Inactivation and Surface Expression.

A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects.

A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.

Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.

Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel Perturbation.

Mechanisms and Regulation of Cardiac Ca(V)1.2 Trafficking.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia.

Different voltage-dependent inhibition by dihydropyridines of human Ca2+ channel splice variants.

Molecular localization of ion selectivity sites within the pore of a human L-type cardiac calcium channel.

Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heart.

Molecular structures involved in L-type calcium channel inactivation. Role of the carboxyl-terminal region encoded by exons 40-42 in alpha1C subunit in the kinetics and Ca2+ dependence of inactivation.

Properties of three COOH-terminal splice variants of a human cardiac L-type Ca2+-channel alpha1-subunit.

Ca2+ channel sensitivity towards the blocker isradipine is affected by alternative splicing of the human alpha1C subunit gene.

Calcium Influx through Voltage-gated Calcium Channels

LTCC multimer transports Ca2+ from extracellular region to cytosol

Class IV antihypertensives bind LTCC multimer

UniProtKB Q13936 CAC1C_HUMAN source record